Urotensin-II system in genetic control of blood pressure and renal function

PLoS One. 2013 Dec 31;8(12):e83137. doi: 10.1371/journal.pone.0083137. eCollection 2013.

Abstract

Urotensin-II controls ion/water homeostasis in fish and vascular tone in rodents. We hypothesised that common genetic variants in urotensin-II pathway genes are associated with human blood pressure or renal function. We performed family-based analysis of association between blood pressure, glomerular filtration and genes of the urotensin-II pathway (urotensin-II, urotensin-II related peptide, urotensin-II receptor) saturated with 28 tagging single nucleotide polymorphisms in 2024 individuals from 520 families; followed by an independent replication in 420 families and 7545 unrelated subjects. The expression studies of the urotensin-II pathway were carried out in 97 human kidneys. Phylogenetic evolutionary analysis was conducted in 17 vertebrate species. One single nucleotide polymorphism (rs531485 in urotensin-II gene) was associated with adjusted estimated glomerular filtration rate in the discovery cohort (p = 0.0005). It showed no association with estimated glomerular filtration rate in the combined replication resource of 8724 subjects from 6 populations. Expression of urotensin-II and its receptor showed strong linear correlation (r = 0.86, p<0.0001). There was no difference in renal expression of urotensin-II system between hypertensive and normotensive subjects. Evolutionary analysis revealed accumulation of mutations in urotensin-II since the divergence of primates and weaker conservation of urotensin-II receptor in primates than in lower vertebrates. Our data suggest that urotensin-II system genes are unlikely to play a major role in genetic control of human blood pressure or renal function. The signatures of evolutionary forces acting on urotensin-II system indicate that it may have evolved towards loss of function since the divergence of primates.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Animals
  • Blood Pressure / genetics*
  • Blood Pressure / physiology*
  • Cohort Studies
  • Evolution, Molecular
  • Female
  • Gene Expression
  • Genetic Association Studies
  • Glomerular Filtration Rate / genetics
  • Glomerular Filtration Rate / physiology
  • Humans
  • Hypertension / genetics
  • Hypertension / physiopathology
  • Intracellular Signaling Peptides and Proteins
  • Kidney / physiology*
  • Male
  • Middle Aged
  • Peptide Hormones / genetics*
  • Peptide Hormones / physiology*
  • Polymorphism, Single Nucleotide
  • Primates / genetics
  • Primates / physiology
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, G-Protein-Coupled / physiology*
  • Urotensins / genetics*
  • Urotensins / physiology*
  • Young Adult

Substances

  • Intracellular Signaling Peptides and Proteins
  • Peptide Hormones
  • Receptors, G-Protein-Coupled
  • UTS2B protein, human
  • UTS2R protein, human
  • Urotensins
  • urotensin II

Grants and funding

This study was supported by the University of Leicester Anniversary Scholarship to RD, DL and MT. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.